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455 Possible Causes for Kyphosis, Retinal Pigmentation, Round Face

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] […] and distal junctional kyphosis angles, and the apical vertebral wedge angle.[ncbi.nlm.nih.gov] Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[patient.info] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[nature.com] An initial kyphosis angle greater than 45 was predictive of progression of more than 10 with sensitivity of 67% and specificity of 88%.[ncbi.nlm.nih.gov] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com]

  • Kniest Dysplasia

    Giant retinal macrocysts made flattening of thethinned, foreshortened, cystic retina difficult.[jamanetwork.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov] Patients develop severe dorsal kyphosis or kyphoscoliosis and lumbar lordosis. Synonym: Swiss cheese cartilage syndrome[medical-dictionary.thefreedictionary.com]

  • Neuhauser Syndrome

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[synapse.koreamed.org] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] 8/15 53 Hypertelorism 10/22 - 10/23 44 Broad nasal root 14/17 - 14/18 78 Micrognatia 19/34 19/35 54 High arched palate 9/34 - 9/35 26 Joint hyperlaxity 10/34 - 10/35 29 Kyphosis[azdoc.site]

  • Cockayne Syndrome

    Main characteristics are dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose giving the patient a prematurely[whonamedit.com] pigment, miotic pupils may be difficult to dilate, cataracts, optic atrophy Teeth Dental caries Bloom syndrome (p. 234) Roth m u nd Thomson syndrome (p. 238) Hartnup syndrome[cram.com] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com]

  • Parkinson's Disease

    Pathologic findings in retinal pigment epithelial cell implantation for Parkinson disease. Neurology. 2009 Oct 6. 73(14):1095-102. [Medline]. [Full Text].[emedicine.com] These were the hands whose unrivaled speed and precision had left an everlasting impression on the face of boxing. In a moment they might do the same to mine.[web.archive.org] These were the hands that had dissected and demoralized Sonny Liston, then dumped him like old laundry; that had beat upon Joe Frazier so badly he could not go another round[web.archive.org]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Pigment Epithelium Sequencing of all coding exons of the gene Deletion and duplication analysis - 1 PRPH2 Retinitis Pigmentosa Sequencing of all coding exons of the gene[cegat.de] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] Parastremmatic dwarfism 0 *Dwarfism *Kyphosis *Intellectual Disability *Scoliosis. Brachydactylous dwarfism Mseleni type 0 *Dwarfism *Joint Diseases *Osteoarthritis.[reference.md]

  • Spondylocarpotarsal Synostosis

    Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this[ncbi.nlm.nih.gov] A mild facial dysmorphism with a round face with frontal bossing and anteverted nostrils.[orpha.net] Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication.[abcam.com]

  • Barth Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org] […] symptoms of Jarcho-Levin syndrome may include: Malformed bones of the vertebrae (spine), such as fused bones The malformed spine bones cause the spine to curve outward ( kyphosis[verywellhealth.com]

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